Coarse (acromegaloid) facies (flat and sloping
forehead) with thick lips, micrognathia, overgrowth of the intraoral mucosa,
blepharophimosis, bulbous nose with thick alae and prominent philtrum, cutis
verticis gyrata, corneal leukoma, hyperextensible joints, and occasional
Acromegaloid Facial Appearance (AFA) Syndrome; Thick Lips
and Oral Mucosa Syndrome.
Described by Helen B. Hughes, a Canadian
pediatrician. Extremely rare abnormality of fetal development of unknown
cause. Some familial AFA syndrome cases have been reported.
Autosomal dominant transmission of combined
phenotype. The phenotype is highly variable and appears to show complete
penetrance. There is no genetic background and no molecular data concerning
Hughes syndrome is suspected at
birth based on the clinical aspects of acromegaloid facial features,
thickened lips, arched eyebrows, blepharophimosis, bulbous nose, overgrowth
of the intraoral mucosa with exaggerated rugae and frenula, thickened upper
lids, narrowing palpebral fissures (blepharophimosis), bulbous nose, and
large and doughy hands without clubbing. Pachydermoperiostosis, Asher
syndrome, and multiple neuroma syndrome must be considered in the
In the Hughes syndrome, there is no
evident impairment of general health. In neonates, eliminate a multiple
endocrine adenomatosis syndrome (Multiple Endocrine Neoplasia (MEN))
and research carefully for the association
of hypoglycemia. Evaluate for airway obstruction and difficult tracheal
intubation related to excessive enlargement of the tongue and epiglottis,
coarse facial features, and increased thickness and length of mandible.
Airway management may be the most
important consideration with this condition. Because of the facial features
suggestive of difficult direct laryngoscopy and tracheal intubation,
maintain spontaneous ventilation until tracheal intubation has been secured
and lung ventilation confirmed.
The potential for postoperative mechanical ventilation support should be considered
after major surgical procedures. This approach also allows better pain
management without the consequences of respiratory depression and/or
No specific pharmacological
considerations with this medical condition.
Dallapiccola B, Zelante L, Accadia L, et al: Acromegaloid facial
appearance (AFA) syndrome: Report of a second family. J Med Genet
Hughes HE, McAlpine PJ, Cox DW, et al: An autosomal dominant syndrome with
“acromegaloid” features and thickened oral mucosa. J Med Genet